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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Soutar MPM, Melandri D, O'Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D'Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H. Soutar MPM, et al. Among authors: kasri nn. Brain. 2022 Dec 19;145(12):4349-4367. doi: 10.1093/brain/awac325. Brain. 2022. PMID: 36074904 Free PMC article.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. Kleefstra T, et al. Among authors: kasri nn. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21. Am J Hum Genet. 2012. PMID: 22726846 Free PMC article.
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
Balemans MC, Kasri NN, Kopanitsa MV, Afinowi NO, Ramakers G, Peters TA, Beynon AJ, Janssen SM, van Summeren RC, Eeftens JM, Eikelenboom N, Benevento M, Tachibana M, Shinkai Y, Kleefstra T, van Bokhoven H, Van der Zee CE. Balemans MC, et al. Among authors: kasri nn. Hum Mol Genet. 2013 Mar 1;22(5):852-66. doi: 10.1093/hmg/dds490. Epub 2012 Nov 21. Hum Mol Genet. 2013. PMID: 23175442
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Iacono G, Dubos A, Méziane H, Benevento M, Habibi E, Mandoli A, Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG. Iacono G, et al. Among authors: kasri nn. Nucleic Acids Res. 2018 Jun 1;46(10):4950-4965. doi: 10.1093/nar/gky196. Nucleic Acids Res. 2018. PMID: 29554304 Free PMC article.
Epigenetic Etiology of Intellectual Disability.
Iwase S, Bérubé NG, Zhou Z, Kasri NN, Battaglioli E, Scandaglia M, Barco A. Iwase S, et al. Among authors: kasri nn. J Neurosci. 2017 Nov 8;37(45):10773-10782. doi: 10.1523/JNEUROSCI.1840-17.2017. J Neurosci. 2017. PMID: 29118205 Free PMC article. Review.
31 results